A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial cytopathy that usually affects people under 40 years of age with variable symptoms [1]. The prevalence of MELAS syndrome in Japan was reported to be 0.2: 100,000 [2]. MELAS can be diagnosed by serum analyses under an aerobic exercise test, brain magnetic resonance imaging (MRI), muscle biopsy and mitochondrial DNA (mtDNA) analysis [3]. Approximately 80% of MELAS cases are caused by a mutation m.3243A > G of the mitochondrial transfer RNA gene [4].

from Journal of the Neurological Sciences https://ift.tt/36774Cg